Incidental Mutation 'R1588:Wdhd1'
| ID |
177661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdhd1
|
| Ensembl Gene |
ENSMUSG00000037572 |
| Gene Name |
WD repeat and HMG-box DNA binding protein 1 |
| Synonyms |
AND-1, D630024B06Rik |
| MMRRC Submission |
039625-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1588 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47493693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 9
(E9G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111790]
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
[ENSMUST00000227041]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111790
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
525 |
551 |
2.4e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111791
AA Change: E637G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: E637G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:Mcl1_mid
|
424 |
708 |
1.6e-103 |
PFAM |
|
coiled coil region
|
802 |
834 |
N/A |
INTRINSIC |
|
HMG
|
1003 |
1073 |
2.64e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111792
AA Change: E600G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: E600G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
316 |
326 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
488 |
514 |
7.1e-13 |
PFAM |
|
coiled coil region
|
765 |
797 |
N/A |
INTRINSIC |
|
HMG
|
966 |
1036 |
2.64e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187531
AA Change: E637G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: E637G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
525 |
551 |
3e-13 |
PFAM |
|
coiled coil region
|
802 |
834 |
N/A |
INTRINSIC |
|
HMG
|
1003 |
1073 |
2.64e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227041
AA Change: E9G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Adamts13 |
A |
T |
2: 26,865,687 (GRCm39) |
I81F |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,747,685 (GRCm39) |
N1567K |
possibly damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,391,484 (GRCm39) |
T261M |
possibly damaging |
Het |
| C4b |
T |
C |
17: 34,959,999 (GRCm39) |
I326V |
probably benign |
Het |
| Casp8ap2 |
G |
A |
4: 32,640,541 (GRCm39) |
A532T |
probably benign |
Het |
| Ccdc134 |
A |
G |
15: 82,019,337 (GRCm39) |
T187A |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,917,039 (GRCm39) |
N359D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,748,184 (GRCm39) |
L82P |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,440,444 (GRCm39) |
R404S |
probably benign |
Het |
| Chrng |
C |
A |
1: 87,135,229 (GRCm39) |
F179L |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,391 (GRCm39) |
I326K |
probably damaging |
Het |
| Decr2 |
T |
C |
17: 26,302,002 (GRCm39) |
T243A |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,715,900 (GRCm39) |
V1502A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,640 (GRCm39) |
V216A |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,174,230 (GRCm39) |
V2161G |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,161,034 (GRCm39) |
T2169A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,196,043 (GRCm39) |
V581A |
unknown |
Het |
| Hip1r |
A |
T |
5: 124,134,638 (GRCm39) |
D350V |
probably damaging |
Het |
| Ift140 |
G |
A |
17: 25,306,959 (GRCm39) |
R898H |
probably damaging |
Het |
| Il12a |
A |
G |
3: 68,602,896 (GRCm39) |
I159V |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,955,488 (GRCm39) |
E1032G |
possibly damaging |
Het |
| Kl |
A |
G |
5: 150,906,097 (GRCm39) |
E489G |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,161,712 (GRCm39) |
E461G |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,313,404 (GRCm39) |
Y177C |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,742,031 (GRCm39) |
Y187N |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,167,785 (GRCm39) |
V1002A |
probably benign |
Het |
| Ntaq1 |
T |
A |
15: 58,021,285 (GRCm39) |
|
probably null |
Het |
| Ntrk1 |
A |
T |
3: 87,687,384 (GRCm39) |
Y683* |
probably null |
Het |
| Or11g26 |
A |
G |
14: 50,753,584 (GRCm39) |
I308V |
probably benign |
Het |
| Or13j1 |
C |
T |
4: 43,705,923 (GRCm39) |
C215Y |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or8k21 |
T |
C |
2: 86,144,874 (GRCm39) |
Y252C |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,560 (GRCm39) |
V367A |
probably benign |
Het |
| Phip |
A |
G |
9: 82,782,881 (GRCm39) |
W855R |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,308,115 (GRCm39) |
S1131G |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,701,442 (GRCm39) |
V1498E |
probably benign |
Het |
| Pramel22 |
G |
T |
4: 143,382,121 (GRCm39) |
L192M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,908,420 (GRCm39) |
N152D |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,052,558 (GRCm39) |
V732M |
probably damaging |
Het |
| Rccd1 |
C |
T |
7: 79,969,859 (GRCm39) |
W223* |
probably null |
Het |
| Riox2 |
T |
A |
16: 59,295,946 (GRCm39) |
S16T |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,350,367 (GRCm39) |
V836I |
probably damaging |
Het |
| Serpinf1 |
G |
A |
11: 75,301,076 (GRCm39) |
R380C |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,040,488 (GRCm39) |
C134S |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,785,924 (GRCm39) |
C123* |
probably null |
Het |
| Slc16a13 |
G |
T |
11: 70,109,421 (GRCm39) |
S360* |
probably null |
Het |
| Srr |
A |
G |
11: 74,799,629 (GRCm39) |
I282T |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,873,565 (GRCm39) |
F607L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,539,870 (GRCm39) |
D34372G |
probably benign |
Het |
| Tub |
C |
T |
7: 108,628,888 (GRCm39) |
T401I |
probably damaging |
Het |
| Yipf3 |
T |
A |
17: 46,561,787 (GRCm39) |
F198Y |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,460,791 (GRCm39) |
R447K |
probably benign |
Het |
|
| Other mutations in Wdhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Wdhd1
|
APN |
14 |
47,488,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01789:Wdhd1
|
APN |
14 |
47,512,274 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01981:Wdhd1
|
APN |
14 |
47,498,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02034:Wdhd1
|
APN |
14 |
47,498,808 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02932:Wdhd1
|
APN |
14 |
47,509,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02966:Wdhd1
|
APN |
14 |
47,479,101 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03355:Wdhd1
|
APN |
14 |
47,481,346 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0165:Wdhd1
|
UTSW |
14 |
47,504,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Wdhd1
|
UTSW |
14 |
47,514,045 (GRCm39) |
missense |
probably benign |
|
|
R0603:Wdhd1
|
UTSW |
14 |
47,501,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Wdhd1
|
UTSW |
14 |
47,484,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1539:Wdhd1
|
UTSW |
14 |
47,482,507 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1541:Wdhd1
|
UTSW |
14 |
47,505,649 (GRCm39) |
nonsense |
probably null |
|
|
R1686:Wdhd1
|
UTSW |
14 |
47,493,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Wdhd1
|
UTSW |
14 |
47,496,034 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1952:Wdhd1
|
UTSW |
14 |
47,507,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2320:Wdhd1
|
UTSW |
14 |
47,511,485 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2421:Wdhd1
|
UTSW |
14 |
47,496,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Wdhd1
|
UTSW |
14 |
47,485,349 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3818:Wdhd1
|
UTSW |
14 |
47,481,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3836:Wdhd1
|
UTSW |
14 |
47,482,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4789:Wdhd1
|
UTSW |
14 |
47,506,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4963:Wdhd1
|
UTSW |
14 |
47,506,146 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4994:Wdhd1
|
UTSW |
14 |
47,506,111 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5225:Wdhd1
|
UTSW |
14 |
47,488,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5347:Wdhd1
|
UTSW |
14 |
47,506,181 (GRCm39) |
nonsense |
probably null |
|
|
R5377:Wdhd1
|
UTSW |
14 |
47,509,678 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6038:Wdhd1
|
UTSW |
14 |
47,501,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6038:Wdhd1
|
UTSW |
14 |
47,501,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6046:Wdhd1
|
UTSW |
14 |
47,510,667 (GRCm39) |
nonsense |
probably null |
|
|
R6156:Wdhd1
|
UTSW |
14 |
47,505,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6289:Wdhd1
|
UTSW |
14 |
47,495,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6298:Wdhd1
|
UTSW |
14 |
47,510,579 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6345:Wdhd1
|
UTSW |
14 |
47,489,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6405:Wdhd1
|
UTSW |
14 |
47,481,324 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6500:Wdhd1
|
UTSW |
14 |
47,488,217 (GRCm39) |
splice site |
probably null |
|
|
R6564:Wdhd1
|
UTSW |
14 |
47,485,499 (GRCm39) |
missense |
probably benign |
|
|
R6897:Wdhd1
|
UTSW |
14 |
47,485,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Wdhd1
|
UTSW |
14 |
47,489,430 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7444:Wdhd1
|
UTSW |
14 |
47,489,405 (GRCm39) |
nonsense |
probably null |
|
|
R7496:Wdhd1
|
UTSW |
14 |
47,511,481 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7503:Wdhd1
|
UTSW |
14 |
47,488,248 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8317:Wdhd1
|
UTSW |
14 |
47,500,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Wdhd1
|
UTSW |
14 |
47,512,252 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8331:Wdhd1
|
UTSW |
14 |
47,509,702 (GRCm39) |
splice site |
probably null |
|
|
R8338:Wdhd1
|
UTSW |
14 |
47,506,120 (GRCm39) |
missense |
probably benign |
|
|
R8363:Wdhd1
|
UTSW |
14 |
47,513,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Wdhd1
|
UTSW |
14 |
47,504,470 (GRCm39) |
missense |
probably benign |
|
|
R8946:Wdhd1
|
UTSW |
14 |
47,482,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9045:Wdhd1
|
UTSW |
14 |
47,511,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9428:Wdhd1
|
UTSW |
14 |
47,489,427 (GRCm39) |
nonsense |
probably null |
|
|
R9444:Wdhd1
|
UTSW |
14 |
47,488,324 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9491:Wdhd1
|
UTSW |
14 |
47,505,616 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAATCCCTGCTCTAGCCTTATAATCTACC -3'
(R):5'- CAGAAAGCAACTCTGAATTATCTTCCCCAAC -3'
Sequencing Primer
(F):5'- accacactttaattttcccttcac -3'
(R):5'- CCCCAACTTTAGCTTTTGAAATTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation